Incidental Mutation 'IGL02556:Trak1'
| ID |
298494 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
IGL02556
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121277967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 341
(N341I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210351]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045903
AA Change: N351I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: N351I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
47 |
352 |
8.1e-139 |
PFAM |
|
Pfam:Milton
|
411 |
580 |
5e-72 |
PFAM |
|
low complexity region
|
882 |
897 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210636
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210798
AA Change: N248I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211187
AA Change: N341I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211301
AA Change: N248I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211439
AA Change: N248I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice with a spontaneous mutation in this allele have various behavioral abnormalities consistent with hypertonia. Inclusions can be found in neuronal processes of the gray matter of the brainstem and spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
G |
10: 100,446,579 (GRCm39) |
|
probably null |
Het |
| Ace |
A |
G |
11: 105,863,353 (GRCm39) |
D376G |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,458,654 (GRCm39) |
T1252I |
probably damaging |
Het |
| Bhmt |
T |
C |
13: 93,774,008 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,425,186 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,299,065 (GRCm39) |
T37A |
probably benign |
Het |
| Cnmd |
C |
T |
14: 79,899,400 (GRCm39) |
V18I |
probably benign |
Het |
| Cryl1 |
C |
T |
14: 57,513,478 (GRCm39) |
V248M |
probably benign |
Het |
| D830039M14Rik |
C |
T |
10: 61,311,262 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,331,128 (GRCm39) |
T107A |
possibly damaging |
Het |
| Efna5 |
C |
A |
17: 62,958,023 (GRCm39) |
V78F |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,503,625 (GRCm39) |
I741V |
probably benign |
Het |
| Gfap |
A |
G |
11: 102,787,780 (GRCm39) |
L55P |
probably damaging |
Het |
| Itga6 |
A |
G |
2: 71,669,027 (GRCm39) |
I606V |
probably benign |
Het |
| Kif2c |
G |
T |
4: 117,019,802 (GRCm39) |
D579E |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,988,442 (GRCm39) |
|
probably null |
Het |
| Lrrc1 |
T |
A |
9: 77,342,404 (GRCm39) |
I357L |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,109 (GRCm39) |
S2620P |
probably benign |
Het |
| Map3k20 |
T |
A |
2: 72,202,239 (GRCm39) |
F157I |
probably damaging |
Het |
| Naga |
A |
T |
15: 82,214,337 (GRCm39) |
N391K |
probably damaging |
Het |
| Ncaph |
T |
C |
2: 126,968,025 (GRCm39) |
|
probably benign |
Het |
| Or11g2 |
C |
A |
14: 50,856,185 (GRCm39) |
Q169K |
probably benign |
Het |
| Or12d13 |
T |
A |
17: 37,647,887 (GRCm39) |
M79L |
probably benign |
Het |
| Or5ae1 |
T |
G |
7: 84,565,567 (GRCm39) |
Y193* |
probably null |
Het |
| Or6b9 |
T |
A |
7: 106,555,598 (GRCm39) |
I182F |
possibly damaging |
Het |
| Or6c2b |
T |
G |
10: 128,947,904 (GRCm39) |
Y130S |
probably damaging |
Het |
| Or8g55 |
T |
A |
9: 39,784,906 (GRCm39) |
C112S |
possibly damaging |
Het |
| Pappa |
C |
A |
4: 65,074,863 (GRCm39) |
D472E |
possibly damaging |
Het |
| Pdxk |
G |
A |
10: 78,287,319 (GRCm39) |
L81F |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,380,934 (GRCm39) |
T2635K |
probably damaging |
Het |
| Psmb6 |
A |
T |
11: 70,417,248 (GRCm39) |
H99L |
possibly damaging |
Het |
| Ptpn6 |
C |
T |
6: 124,705,623 (GRCm39) |
G135E |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,972,844 (GRCm39) |
D251E |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,689,234 (GRCm39) |
V1955A |
possibly damaging |
Het |
| Rsph4a |
T |
C |
10: 33,781,148 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
T |
C |
14: 40,542,700 (GRCm39) |
T359A |
probably benign |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,087 (GRCm39) |
D348G |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,797,932 (GRCm39) |
M217K |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,711,054 (GRCm39) |
L49P |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,956,173 (GRCm39) |
M288I |
probably benign |
Het |
| Tmem127 |
C |
A |
2: 127,097,922 (GRCm39) |
|
probably null |
Het |
| Tnfrsf17 |
T |
C |
16: 11,131,811 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,002,692 (GRCm39) |
I1453T |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,944,709 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
T |
C |
2: 146,880,216 (GRCm39) |
|
probably benign |
Het |
| Zscan10 |
C |
T |
17: 23,827,119 (GRCm39) |
A144V |
possibly damaging |
Het |
|
| Other mutations in Trak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Trak1
|
APN |
9 |
121,272,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01335:Trak1
|
APN |
9 |
121,283,382 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01777:Trak1
|
APN |
9 |
121,260,626 (GRCm39) |
splice site |
probably null |
|
|
IGL01804:Trak1
|
APN |
9 |
121,271,751 (GRCm39) |
splice site |
probably benign |
|
|
IGL01986:Trak1
|
APN |
9 |
121,302,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02248:Trak1
|
APN |
9 |
121,275,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02276:Trak1
|
APN |
9 |
121,280,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Trak1
|
APN |
9 |
121,196,188 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
PIT4468001:Trak1
|
UTSW |
9 |
121,282,398 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0067:Trak1
|
UTSW |
9 |
121,301,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Trak1
|
UTSW |
9 |
121,283,404 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0535:Trak1
|
UTSW |
9 |
121,272,778 (GRCm39) |
missense |
probably null |
1.00 |
|
R0629:Trak1
|
UTSW |
9 |
121,196,233 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0671:Trak1
|
UTSW |
9 |
121,278,021 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0883:Trak1
|
UTSW |
9 |
121,282,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1160:Trak1
|
UTSW |
9 |
121,221,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1162:Trak1
|
UTSW |
9 |
121,282,407 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1168:Trak1
|
UTSW |
9 |
121,269,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Trak1
|
UTSW |
9 |
121,283,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Trak1
|
UTSW |
9 |
121,302,063 (GRCm39) |
makesense |
probably null |
|
|
R2119:Trak1
|
UTSW |
9 |
121,302,063 (GRCm39) |
makesense |
probably null |
|
|
R2120:Trak1
|
UTSW |
9 |
121,302,063 (GRCm39) |
makesense |
probably null |
|
|
R2137:Trak1
|
UTSW |
9 |
121,302,028 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3162:Trak1
|
UTSW |
9 |
121,280,800 (GRCm39) |
splice site |
probably benign |
|
|
R3888:Trak1
|
UTSW |
9 |
121,271,863 (GRCm39) |
splice site |
probably null |
|
|
R3889:Trak1
|
UTSW |
9 |
121,274,939 (GRCm39) |
missense |
probably null |
0.40 |
|
R4031:Trak1
|
UTSW |
9 |
121,280,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Trak1
|
UTSW |
9 |
121,277,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4406:Trak1
|
UTSW |
9 |
121,260,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Trak1
|
UTSW |
9 |
121,283,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4631:Trak1
|
UTSW |
9 |
121,283,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4632:Trak1
|
UTSW |
9 |
121,283,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4786:Trak1
|
UTSW |
9 |
121,301,560 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5137:Trak1
|
UTSW |
9 |
121,196,121 (GRCm39) |
intron |
probably benign |
|
|
R5159:Trak1
|
UTSW |
9 |
121,289,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5467:Trak1
|
UTSW |
9 |
121,275,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Trak1
|
UTSW |
9 |
121,272,703 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5664:Trak1
|
UTSW |
9 |
121,301,373 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5769:Trak1
|
UTSW |
9 |
121,277,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Trak1
|
UTSW |
9 |
121,289,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6257:Trak1
|
UTSW |
9 |
121,196,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6257:Trak1
|
UTSW |
9 |
121,275,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Trak1
|
UTSW |
9 |
121,280,792 (GRCm39) |
missense |
probably null |
0.03 |
|
R6399:Trak1
|
UTSW |
9 |
121,282,562 (GRCm39) |
splice site |
probably null |
|
|
R6513:Trak1
|
UTSW |
9 |
121,272,822 (GRCm39) |
missense |
probably benign |
|
|
R6579:Trak1
|
UTSW |
9 |
121,272,704 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6940:Trak1
|
UTSW |
9 |
121,272,784 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7120:Trak1
|
UTSW |
9 |
121,289,564 (GRCm39) |
missense |
probably benign |
|
|
R7299:Trak1
|
UTSW |
9 |
121,280,929 (GRCm39) |
splice site |
probably null |
|
|
R7304:Trak1
|
UTSW |
9 |
121,245,278 (GRCm39) |
missense |
probably benign |
|
|
R7396:Trak1
|
UTSW |
9 |
121,277,973 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7522:Trak1
|
UTSW |
9 |
121,271,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7657:Trak1
|
UTSW |
9 |
121,301,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Trak1
|
UTSW |
9 |
121,196,291 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7793:Trak1
|
UTSW |
9 |
121,245,264 (GRCm39) |
nonsense |
probably null |
|
|
R7999:Trak1
|
UTSW |
9 |
121,289,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Trak1
|
UTSW |
9 |
121,280,793 (GRCm39) |
missense |
probably benign |
|
|
R8215:Trak1
|
UTSW |
9 |
121,298,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Trak1
|
UTSW |
9 |
121,280,793 (GRCm39) |
missense |
probably benign |
|
|
R8261:Trak1
|
UTSW |
9 |
121,280,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Trak1
|
UTSW |
9 |
121,289,565 (GRCm39) |
nonsense |
probably null |
|
|
R8914:Trak1
|
UTSW |
9 |
121,272,847 (GRCm39) |
missense |
unknown |
|
|
R9072:Trak1
|
UTSW |
9 |
121,289,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Trak1
|
UTSW |
9 |
121,289,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Trak1
|
UTSW |
9 |
121,280,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9366:Trak1
|
UTSW |
9 |
121,301,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Trak1
|
UTSW |
9 |
121,220,924 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Posted On |
2015-04-16 |
Incidental Mutation